Mutagenetix > Incidental Mutation

Incidental Mutation 'R0329:Ythdc2'

25970

Institutional Source

Beutler Lab

Gene Symbol

Ythdc2

Ensembl Gene

ENSMUSG00000034653

Gene Name

YTH domain containing 2

Synonyms

3010002F02Rik

MMRRC Submission

038538-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0329 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

44961521-45022787 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 44998127 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000144479 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037763] [ENSMUST00000201507]

AlphaFold

B2RR83

Predicted Effect

probably benign
Transcript: ENSMUST00000037763

SMART Domains

Protein: ENSMUSP00000048340
Gene: ENSMUSG00000034653

Domain	Start	End	E-Value	Type
low complexity region	2	50	N/A	INTRINSIC
Pfam:R3H	59	119	1.7e-15	PFAM
DEXDc	206	393	4.95e-26	SMART
low complexity region	413	428	N/A	INTRINSIC
ANK	521	550	2.79e1	SMART
ANK	554	583	1.5e2	SMART
HELICc	648	759	5.31e-17	SMART
HA2	823	916	2.58e-22	SMART
Pfam:OB_NTP_bind	953	1082	1.3e-18	PFAM
low complexity region	1263	1299	N/A	INTRINSIC
Pfam:YTH	1303	1434	7.2e-50	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000201507

SMART Domains

Protein: ENSMUSP00000144479
Gene: ENSMUSG00000034653

Domain	Start	End	E-Value	Type
HELICc	5	104	9.1e-19	SMART
HA2	168	261	2e-26	SMART
Pfam:OB_NTP_bind	298	427	6e-16	PFAM
low complexity region	570	582	N/A	INTRINSIC

Coding Region Coverage

1x: 98.9%
3x: 97.8%
10x: 95.0%
20x: 89.0%

Validation Efficiency

99% (107/108)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the DEAH (Asp-Glu-Ala-His) subfamily of proteins, part of the DEAD (Asp-Glu-Ala-Asp) box family of RNA helicases. The encoded protein binds to N6-methyladenosine, a common modified RNA nucleotide that is enriched in the stop codons and 3' UTRs of eukaryotic messenger RNAs. Binding of proteins to this modified nucleotide may regulate mRNA translation and stability. This gene may be associated with susceptibility to pancreatic cancer in human patients, and knockdown of this gene resulted in reduced proliferation in a human liver cancer cell line. [provided by RefSeq, Sep 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit female and male infertility with arrested meiosis and small gonads. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 107 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,349,430 (GRCm39)	H3668L	probably damaging	Het
Acsbg3	A	T	17: 57,190,631 (GRCm39)	I400F	probably benign	Het
Acvr1c	T	C	2: 58,174,850 (GRCm39)	T313A	probably damaging	Het
Adam28	T	C	14: 68,855,188 (GRCm39)	K651R	probably damaging	Het
Adamtsl3	A	T	7: 82,171,198 (GRCm39)	D417V	probably damaging	Het
Adgrf4	A	T	17: 42,978,204 (GRCm39)	C380S	probably damaging	Het
AI597479	T	G	1: 43,150,277 (GRCm39)	L129R	probably benign	Het
Anpep	C	T	7: 79,488,004 (GRCm39)	E518K	probably benign	Het
Anxa7	A	C	14: 20,519,566 (GRCm39)		probably null	Het
Arb2a	T	A	13: 77,910,070 (GRCm39)		probably benign	Het
Arhgap22	A	G	14: 33,091,374 (GRCm39)	R650G	possibly damaging	Het
Atp8a1	T	A	5: 67,969,416 (GRCm39)		probably benign	Het
Bcr	C	T	10: 75,017,466 (GRCm39)	T1209I	possibly damaging	Het
Bmpr1a	C	T	14: 34,151,734 (GRCm39)	S185N	probably benign	Het
Calcoco1	A	T	15: 102,624,198 (GRCm39)	M246K	probably benign	Het
Casp12	T	A	9: 5,345,534 (GRCm39)		probably benign	Het
Ccno	T	A	13: 113,126,530 (GRCm39)	L333Q	probably damaging	Het
Cdhr2	T	A	13: 54,882,614 (GRCm39)		probably benign	Het
Cftr	T	A	6: 18,226,096 (GRCm39)	M318K	probably null	Het
Ckmt2	T	A	13: 92,011,322 (GRCm39)	D96V	possibly damaging	Het
Cnnm1	C	T	19: 43,430,349 (GRCm39)	P489L	probably damaging	Het
Cntnap1	A	T	11: 101,079,135 (GRCm39)	D1175V	probably damaging	Het
Cpne5	A	T	17: 29,430,634 (GRCm39)	L92H	probably damaging	Het
Crcp	C	A	5: 130,071,083 (GRCm39)	Q61K	possibly damaging	Het
Crppa	C	T	12: 36,431,837 (GRCm39)	A22V	possibly damaging	Het
Dcaf8	T	A	1: 172,014,978 (GRCm39)	D414E	probably benign	Het
Ddx28	T	C	8: 106,736,877 (GRCm39)	T394A	probably benign	Het
Ddx55	T	C	5: 124,697,210 (GRCm39)	F191L	probably benign	Het
Dnaaf1	T	C	8: 120,322,756 (GRCm39)		probably benign	Het
Dnaaf2	C	A	12: 69,244,518 (GRCm39)	R181L	probably damaging	Het
Elac2	A	G	11: 64,870,136 (GRCm39)	Y67C	probably damaging	Het
Elf5	A	G	2: 103,260,765 (GRCm39)		probably benign	Het
Emcn	T	A	3: 137,122,575 (GRCm39)		probably benign	Het
Erbb4	T	C	1: 68,337,439 (GRCm39)		probably benign	Het
Erbin	C	A	13: 104,005,373 (GRCm39)	C114F	probably damaging	Het
Etfdh	T	C	3: 79,517,151 (GRCm39)	I353V	probably benign	Het
Fads2b	T	A	2: 85,348,895 (GRCm39)	R72S	probably benign	Het
Fbxl12	C	T	9: 20,549,776 (GRCm39)	G316D	probably damaging	Het
Gbf1	G	A	19: 46,260,709 (GRCm39)		probably null	Het
Gbp2b	T	G	3: 142,313,937 (GRCm39)	S406A	probably benign	Het
Gli3	T	G	13: 15,898,143 (GRCm39)	L741R	probably damaging	Het
Gmip	G	T	8: 70,263,468 (GRCm39)	S70I	probably benign	Het
Gnptab	T	C	10: 88,276,171 (GRCm39)	S1153P	probably damaging	Het
Gp1ba	A	G	11: 70,531,235 (GRCm39)		probably benign	Het
Gramd1a	T	C	7: 30,837,679 (GRCm39)	D360G	possibly damaging	Het
Hectd4	T	C	5: 121,397,927 (GRCm39)	I285T	probably benign	Het
Hrh4	A	G	18: 13,140,302 (GRCm39)		probably benign	Het
Hsp90b1	T	C	10: 86,530,019 (GRCm39)	E226G	probably damaging	Het
Hspa13	A	T	16: 75,562,018 (GRCm39)	D60E	probably damaging	Het
Htt	T	A	5: 34,974,478 (GRCm39)		probably benign	Het
Iqca1l	T	C	5: 24,750,783 (GRCm39)		probably null	Het
Kif14	G	C	1: 136,423,764 (GRCm39)		probably benign	Het
Kit	T	G	5: 75,813,489 (GRCm39)	V888G	probably damaging	Het
Lpin3	T	C	2: 160,747,225 (GRCm39)	V827A	probably benign	Het
Lrriq4	T	C	3: 30,709,873 (GRCm39)	S406P	probably benign	Het
Man2c1	T	C	9: 57,048,467 (GRCm39)	V777A	probably benign	Het
Mcm8	A	G	2: 132,661,914 (GRCm39)	K83E	possibly damaging	Het
Mep1a	A	G	17: 43,808,789 (GRCm39)		probably null	Het
Mtor	T	A	4: 148,568,837 (GRCm39)	V1119E	probably benign	Het
Mybpc2	C	T	7: 44,158,453 (GRCm39)	A710T	possibly damaging	Het
Myo9a	C	G	9: 59,830,960 (GRCm39)	T2368S	probably damaging	Het
Nbeal1	A	G	1: 60,307,222 (GRCm39)	Y1684C	probably damaging	Het
Npm3	A	G	19: 45,737,965 (GRCm39)	F11L	probably benign	Het
Nutf2	T	A	8: 106,602,995 (GRCm39)	S37T	probably damaging	Het
Obscn	T	A	11: 58,931,267 (GRCm39)	I5790F	probably damaging	Het
Obscn	A	T	11: 58,943,332 (GRCm39)	D4833E	probably damaging	Het
Or2g1	A	T	17: 38,106,880 (GRCm39)	M182L	probably benign	Het
Or7d9	T	A	9: 20,197,153 (GRCm39)	S61T	possibly damaging	Het
Or8g35	T	C	9: 39,381,852 (GRCm39)	T57A	possibly damaging	Het
Or9g4b	T	A	2: 85,616,147 (GRCm39)	C97*	probably null	Het
Pcdhb1	A	G	18: 37,400,077 (GRCm39)	D676G	possibly damaging	Het
Pcif1	G	T	2: 164,731,364 (GRCm39)	R466L	probably damaging	Het
Pdk1	T	C	2: 71,726,018 (GRCm39)		probably benign	Het
Phxr2	T	C	10: 98,961,979 (GRCm39)		probably benign	Het
Pidd1	A	T	7: 141,019,474 (GRCm39)		probably benign	Het
Plec	A	G	15: 76,075,618 (GRCm39)		probably null	Het
Polr1a	T	A	6: 71,943,400 (GRCm39)	C1212S	possibly damaging	Het
Pot1a	A	G	6: 25,778,830 (GRCm39)		probably benign	Het
Prdm5	T	C	6: 65,839,887 (GRCm39)		probably benign	Het
Primpol	A	T	8: 47,063,496 (GRCm39)	N53K	probably damaging	Het
Pyroxd1	A	G	6: 142,307,702 (GRCm39)	I491V	probably benign	Het
Serpinb3b	G	T	1: 107,087,433 (GRCm39)	N25K	probably damaging	Het
Slc9b1	C	T	3: 135,078,996 (GRCm39)	R218*	probably null	Het
Ssbp2	T	A	13: 91,828,698 (GRCm39)		probably null	Het
Stat4	A	G	1: 52,130,029 (GRCm39)		probably benign	Het
Steap4	T	C	5: 8,025,829 (GRCm39)	V130A	possibly damaging	Het
Stoml2	A	G	4: 43,030,238 (GRCm39)		probably null	Het
Syne2	G	T	12: 76,013,727 (GRCm39)	G2974C	probably benign	Het
Tfdp2	T	G	9: 96,188,946 (GRCm39)	F200V	probably damaging	Het
Tgm4	T	C	9: 122,877,622 (GRCm39)		probably null	Het
Tie1	C	A	4: 118,341,924 (GRCm39)	R175L	probably benign	Het
Tmem145	A	G	7: 25,008,099 (GRCm39)		probably benign	Het
Tsacc	A	G	3: 88,190,169 (GRCm39)	S94P	possibly damaging	Het
Tshz3	T	A	7: 36,469,458 (GRCm39)	D482E	probably benign	Het
Tspan33	T	C	6: 29,711,091 (GRCm39)		probably null	Het
Ugt2b35	A	G	5: 87,151,264 (GRCm39)	K290R	probably null	Het
Unc80	T	C	1: 66,713,246 (GRCm39)	L2788P	possibly damaging	Het
Usp10	T	A	8: 120,663,296 (GRCm39)	C39*	probably null	Het
Utp20	T	A	10: 88,653,841 (GRCm39)	T260S	probably benign	Het
Vmn2r118	G	T	17: 55,917,717 (GRCm39)	T265K	probably damaging	Het
Vmn2r7	C	A	3: 64,598,439 (GRCm39)	C797F	probably damaging	Het
Vmn2r98	A	C	17: 19,286,609 (GRCm39)	H369P	probably benign	Het
Vps39	A	T	2: 120,169,268 (GRCm39)	Y245N	possibly damaging	Het
Wdr27	A	G	17: 15,154,721 (GRCm39)		probably benign	Het
Zcwpw2	C	A	9: 117,843,123 (GRCm39)		noncoding transcript	Het
Zdhhc1	C	A	8: 106,210,175 (GRCm39)	A81S	probably benign	Het
Zfp729a	G	T	13: 67,768,473 (GRCm39)	H585Q	probably damaging	Het

Other mutations in Ythdc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00321:Ythdc2	APN	18	44,993,040 (GRCm39)	missense	probably benign
IGL00341:Ythdc2	APN	18	44,983,464 (GRCm39)	missense	probably benign	0.00
IGL00502:Ythdc2	APN	18	44,980,879 (GRCm39)	missense	probably damaging	0.99
IGL00585:Ythdc2	APN	18	44,997,428 (GRCm39)	missense	probably damaging	1.00
IGL01081:Ythdc2	APN	18	44,983,726 (GRCm39)	missense	probably benign	0.19
IGL01569:Ythdc2	APN	18	45,020,718 (GRCm39)	missense	probably benign
IGL01577:Ythdc2	APN	18	44,991,349 (GRCm39)	missense	probably benign	0.00
IGL01617:Ythdc2	APN	18	44,974,482 (GRCm39)	missense	possibly damaging	0.53
IGL01674:Ythdc2	APN	18	44,993,471 (GRCm39)	missense	probably benign	0.04
IGL01736:Ythdc2	APN	18	44,983,735 (GRCm39)	missense	probably damaging	0.97
IGL02095:Ythdc2	APN	18	45,006,207 (GRCm39)	splice site	probably benign
IGL02245:Ythdc2	APN	18	44,995,751 (GRCm39)	missense	possibly damaging	0.74
IGL02524:Ythdc2	APN	18	44,980,921 (GRCm39)	missense	probably damaging	0.98
IGL02542:Ythdc2	APN	18	44,973,308 (GRCm39)	missense	probably damaging	1.00
IGL02622:Ythdc2	APN	18	44,993,001 (GRCm39)	missense	probably damaging	0.99
IGL02795:Ythdc2	APN	18	44,970,505 (GRCm39)	missense	possibly damaging	0.95
IGL02935:Ythdc2	APN	18	44,988,112 (GRCm39)	missense	probably damaging	1.00
PIT4618001:Ythdc2	UTSW	18	44,967,665 (GRCm39)	missense	probably benign	0.19
R0115:Ythdc2	UTSW	18	44,974,490 (GRCm39)	splice site	probably benign
R0472:Ythdc2	UTSW	18	44,997,424 (GRCm39)	missense	probably benign	0.02
R0530:Ythdc2	UTSW	18	44,983,465 (GRCm39)	missense	probably damaging	0.99
R0547:Ythdc2	UTSW	18	44,973,331 (GRCm39)	missense	possibly damaging	0.92
R0563:Ythdc2	UTSW	18	44,997,915 (GRCm39)	splice site	probably benign
R0609:Ythdc2	UTSW	18	44,997,424 (GRCm39)	missense	probably benign	0.02
R1291:Ythdc2	UTSW	18	44,988,276 (GRCm39)	missense	probably benign	0.33
R1469:Ythdc2	UTSW	18	44,997,529 (GRCm39)	missense	probably benign	0.00
R1469:Ythdc2	UTSW	18	44,997,529 (GRCm39)	missense	probably benign	0.00
R1724:Ythdc2	UTSW	18	44,961,757 (GRCm39)	missense	probably benign	0.04
R1860:Ythdc2	UTSW	18	45,006,023 (GRCm39)	missense	possibly damaging	0.86
R2040:Ythdc2	UTSW	18	44,988,241 (GRCm39)	nonsense	probably null
R2308:Ythdc2	UTSW	18	44,980,815 (GRCm39)	missense	possibly damaging	0.95
R3711:Ythdc2	UTSW	18	44,966,240 (GRCm39)	missense	probably damaging	0.98
R4005:Ythdc2	UTSW	18	44,966,195 (GRCm39)	missense	probably benign	0.00
R4580:Ythdc2	UTSW	18	44,991,265 (GRCm39)	missense	possibly damaging	0.81
R4631:Ythdc2	UTSW	18	45,020,698 (GRCm39)	missense	probably benign	0.03
R4815:Ythdc2	UTSW	18	45,018,307 (GRCm39)	missense	probably benign	0.40
R4924:Ythdc2	UTSW	18	44,980,871 (GRCm39)	missense	probably damaging	1.00
R4982:Ythdc2	UTSW	18	45,004,532 (GRCm39)	missense	probably benign	0.01
R5011:Ythdc2	UTSW	18	44,987,809 (GRCm39)	missense	probably benign	0.38
R5141:Ythdc2	UTSW	18	44,998,114 (GRCm39)	missense	probably benign	0.01
R5147:Ythdc2	UTSW	18	44,977,359 (GRCm39)	missense	probably damaging	0.98
R5280:Ythdc2	UTSW	18	44,993,688 (GRCm39)	missense	probably damaging	1.00
R5388:Ythdc2	UTSW	18	44,990,092 (GRCm39)	missense	possibly damaging	0.65
R5928:Ythdc2	UTSW	18	44,966,272 (GRCm39)	missense	probably benign
R5931:Ythdc2	UTSW	18	45,006,023 (GRCm39)	missense	possibly damaging	0.86
R5995:Ythdc2	UTSW	18	45,019,320 (GRCm39)	missense	probably damaging	1.00
R6027:Ythdc2	UTSW	18	44,993,503 (GRCm39)	missense	probably benign	0.02
R6056:Ythdc2	UTSW	18	44,973,277 (GRCm39)	missense	probably damaging	0.98
R6318:Ythdc2	UTSW	18	44,993,444 (GRCm39)	missense	probably benign	0.04
R6399:Ythdc2	UTSW	18	45,019,469 (GRCm39)	missense	possibly damaging	0.93
R6586:Ythdc2	UTSW	18	44,978,855 (GRCm39)	missense	probably benign	0.00
R6684:Ythdc2	UTSW	18	45,006,136 (GRCm39)	missense	possibly damaging	0.47
R7040:Ythdc2	UTSW	18	44,967,529 (GRCm39)	missense	probably benign	0.02
R7071:Ythdc2	UTSW	18	44,978,855 (GRCm39)	missense	probably benign	0.00
R7105:Ythdc2	UTSW	18	44,967,630 (GRCm39)	missense	probably damaging	1.00
R7148:Ythdc2	UTSW	18	44,966,189 (GRCm39)	missense	probably benign	0.42
R7290:Ythdc2	UTSW	18	44,970,558 (GRCm39)	missense	possibly damaging	0.50
R7806:Ythdc2	UTSW	18	44,983,491 (GRCm39)	missense	probably benign	0.05
R7806:Ythdc2	UTSW	18	44,977,353 (GRCm39)	missense	possibly damaging	0.91
R8114:Ythdc2	UTSW	18	45,010,807 (GRCm39)	missense	probably benign	0.15
R8820:Ythdc2	UTSW	18	44,967,531 (GRCm39)	nonsense	probably null
R8840:Ythdc2	UTSW	18	44,993,691 (GRCm39)	missense	probably damaging	1.00
R8998:Ythdc2	UTSW	18	44,997,371 (GRCm39)	missense	probably benign	0.31
R9065:Ythdc2	UTSW	18	44,977,418 (GRCm39)	missense	probably benign	0.00
R9196:Ythdc2	UTSW	18	44,988,464 (GRCm39)	missense	probably damaging	0.96
R9251:Ythdc2	UTSW	18	44,974,442 (GRCm39)	missense	probably benign	0.00
R9331:Ythdc2	UTSW	18	44,970,499 (GRCm39)	missense	possibly damaging	0.87
R9469:Ythdc2	UTSW	18	45,019,383 (GRCm39)	missense	probably damaging	1.00
R9634:Ythdc2	UTSW	18	45,006,037 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TAGATTCCTCCCGCCAATGGTCAG -3'
(R):5'- TGGGCACCATTATTCAGCAACCTAC -3'

Sequencing Primer
(F):5'- GCCAATGGTCAGGCTGC -3'
(R):5'- CCTGTCTCAGTATATCAAATATGCC -3'

Posted On

2013-04-16